Osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, representing a continuum ranging from perinatal lethality through individuals with severe skeletal deformities to nearly asymptomatic individuals with mild predisposition to fractures. Diagnosis of OI is an interdisciplinary task based on family and/or patient history of fractures combined with characteristic physical findings. Radiographic examination reveals fractures of varying ages and stages of healing, wormian bones, and osteopenia. As there is no definitive test for OI, molecular genetic testing by next-generation sequencing (NGS) of COL1A1 and COL1A2 and up to 12 other genes is essential to confirm the genetic background.

Brugada syndrome is a rare hereditary disorder characterized by distinct ECG findings, complex genetics, and a high risk of sudden cardiac death. Recognition of the syndrome is crucial as it represents a paradigm of sudden death tragedy in individuals at the peak of their lives. Notably, Brugada syndrome accounts for more than 20% of sudden cardiac deaths in individuals with structurally normal hearts. Genetics and personalized medicine hold immense potential in the primary prevention, diagnosis, and treatment of Brugada syndrome and sudden cardiac death.

Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene. The dysregulation of cholesterol metabolism results in the accumulation of metabolites such as cholestanol, which has a predilection for neuronal tissue and tendons. The condition is treatable with chenodeoxycholic acid (CDCA), which halts the production of these metabolites. Early diagnosis and treatment initiation in CTX patients is of great importance, as a significant reversal of disease progression can be achieved.